Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51958334G>ACA6989058ATP7Bc.2332C>T (p.Arg778Trp)
c.1870-727C>T (p.=)
c.1999C>T (p.Arg667Trp)
c.2236C>T (p.Arg746Trp)
c.2122-727C>T (p.=)
c.2080C>T (p.Arg694Trp)
c.2296C>T (p.Arg766Trp)
c.148C>T (p.Arg50Trp)
c.1918C>T (p.Arg640Trp)
c.1000C>T (p.Arg334Trp)
n.2551C>T
c.1286-8173C>T (p.=)
n.293C>T
n.2427C>T
n.1677C>T
c.2188C>T (p.Arg730Trp)
n.212-11856C>T
ClinVar dbSNP ExAC gnomAD
13g.51958334G>CCA270733ATP7Bc.2332C>G (p.Arg778Gly)
c.1870-727C>G (p.=)
c.1999C>G (p.Arg667Gly)
c.2236C>G (p.Arg746Gly)
c.2122-727C>G (p.=)
c.2080C>G (p.Arg694Gly)
c.2296C>G (p.Arg766Gly)
c.148C>G (p.Arg50Gly)
c.1918C>G (p.Arg640Gly)
c.1000C>G (p.Arg334Gly)
n.2551C>G
c.1286-8173C>G (p.=)
n.293C>G
n.2427C>G
n.1677C>G
c.2188C>G (p.Arg730Gly)
n.212-11856C>G
ClinVar dbSNP gnomAD

Number of alleles fetched